Varaico: Literature-Extracted Genetic Variants

Gene:CPA1
Variant:p.A208T
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CPA1

NM_001868.4:p.A208T

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.

Prasad H et al.

Human Molecular Genetics, 2024

Genetic Variability in the CPA1 Gene and Its Impact on Acute Pancreatitis Risk: New Insights from a Large-Scale Study.

Głuszek S et al.

International Journal of Molecular Sciences, 2024

Functional predictors of pathogenicity of missense CPA1 variants in chronic pancreatitis.

Sándor M et al.

Gut, 2024

Genetic Variants, Fat Malabsorption, and Ancestral Background in a Small Chronic Pancreatitis Cohort.

Brownell JN et al.

Pancreas, 2020

No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.

Wu H et al.

Human Mutation, 2017

Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

Witt H et al.

Nature Genetics, 2013

Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region.

Bonora E et al.

Molecular Psychiatry, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."